Department of Paediatrics, Monash University Malaysia, JKR 1235, Bukit Azah, Johor Bahru 80100, Malaysia.
Singapore Med J. 2011 Oct;52(10):e206-9.
We report the unusual case of a dysmorphic child with global developmental delay secondary to a familial complex chromosomal rearrangement (CCR). His chromosomal analysis using G-banding and dual colour fluorescence in situ hybridisation with whole chromosome paint revealed a supernumerary marker chromosome as a result of malsegregation of a familial CCR involving chromosomes 7, 12 and 14. The balanced form of this familial CCR was also carried by the patient's mother and maternal grandmother, both of whom had a history of recurrent spontaneous abortions, as well as his maternal uncle, who was infertile. To the best of our knowledge, this is the first reported case of familial CCR involving chromosomes 7, 12 and 14. This case also highlights the importance of chromosomal analysis in children with dysmorphism and developmental delay as well as in adults who suffer from recurrent spontaneous abortions or infertility.
我们报告了一例罕见的发育迟缓患儿，其病因是家族性复杂染色体重排（CCR）。患儿的染色体分析采用 G 显带和全染色体涂染的双色荧光原位杂交技术，结果显示存在一个额外的标记染色体，这是由于家族性 CCR 涉及 7、12 和 14 号染色体的错误分离所致。该家族性 CCR 的平衡形式也存在于患儿的母亲和外祖母，她们都有复发性自然流产史，以及患儿的舅舅，他不育。据我们所知，这是首例涉及 7、12 和 14 号染色体的家族性 CCR 病例。该病例还强调了在形态异常和发育迟缓的儿童以及复发性自然流产或不育的成年人中进行染色体分析的重要性。
